Submissions for variant NM_001038603.3(MARVELD2):c.900G>A (p.Leu300=)

gnomAD frequency: 0.00096  dbSNP: rs138680809

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151015	SCV000198733	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Leu300Leu in Exon 02 of MARVELD2: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.4% (14/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs138680809).
Eurofins Ntd Llc (ga)	RCV000727255	SCV000707015	uncertain significance	not provided	2017-03-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000151015	SCV000723702	likely benign	not specified	2017-10-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000727255	SCV003247482	benign	not provided	2023-11-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927452	SCV004756364	likely benign	MARVELD2-related disorder	2019-10-14	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).